Abdulridha Jaafar Sadeq, Mashkani Baratali, Alaei Amin, Boskabadi Mostafa, Varasteh Abdolreza, Keyfi Fatemeh
Department of Clinical Biochemistry, Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Medical Laboratory Science, Varastegan Institute for Medical Sciences, Mashhad, Iran.
Rep Biochem Mol Biol. 2024 Jan;12(4):522-529. doi: 10.61186/rbmb.12.4.522.
Acylcarnitine is one of the crucial markers of fatty acid metabolism, and examination of their level in infants can reveal several Inherited Metabolic Disorders (IDM) or Inborn errors of Metabolism (IEM). Because of the great importance of hereditary, metabolic, and other inherited disorders early diagnosis before the appearance of clinical symptoms, this study was carried out to establish a reference range for carnitine analytes and to identify acylcarnitine profiles in normal weight neonatal dried blood spots (DBS) specimens.
By using liquid chromatography tandem mass spectrometry (LC-MS/MS) for neonatal screening and eventually the examination and analysis of LC-MS/MS results, 34 acylcarnitine derivatives were identified.
The normal range for acylcarnitine analytes with carbon numbers ranging from zero to 18, both main and the branched ones, were ultimately measured. Afterward, they were compared with the results of some other diagnostic laboratories to be verified.
This study differed from the other findings, which could be due to diversity in population and work methods. However, the reference range of most acylcarnitine derivatives in Tehran closely aligned with this study's findings.
酰基肉碱是脂肪酸代谢的关键标志物之一，检测婴儿体内酰基肉碱水平可发现多种遗传性代谢疾病（IDM）或先天性代谢缺陷（IEM）。鉴于在临床症状出现之前对遗传性、代谢性及其他遗传性疾病进行早期诊断至关重要，本研究旨在建立肉碱分析物的参考范围，并确定正常体重新生儿干血斑（DBS）标本中的酰基肉碱谱。
采用液相色谱串联质谱法（LC-MS/MS）进行新生儿筛查，并最终对LC-MS/MS结果进行检测和分析，共鉴定出34种酰基肉碱衍生物。
最终测定了碳数从零到18的主链和支链酰基肉碱分析物的正常范围。随后，将其与其他一些诊断实验室的结果进行比较以进行验证。
本研究结果与其他研究不同，这可能是由于人群和工作方法的差异所致。然而，德黑兰大多数酰基肉碱衍生物的参考范围与本研究结果密切相符。
